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"XP_024301928.1:p.Trp1280_Leu1728delinsLeuLeuGluTyrThrGluGluTyrAspGlnIlePheAlaProLysLysLysGlnLysLysValGlnGluGlnValHisLysValSerSerArgCysGluGluGluSerLeuLeuAlaArgGlyArgSerSerAlaGlnAsnLysGlnValAspGluAsnSerLeuIleSerThrLysGluGluProProValLeuGluArgGluAlaProPheLeuGluGlyProLeuAlaGlnSerGluLeuGlyGlyGlyHisAlaGluLeuProGlnLeuThrLeuSerValProValAlaProGluValSerProArgProAlaLeuGluSerGluGluLeuLeuValLysThrProGlyAsnTyrGluSerLysArgGlnArgLysProThrLysLysLeuLeuGluSerAsnAspLeuAspProGlyPheMetProLysLysGlyAspLeuGlyLeuSerLysLysCysTyrGluAlaGlyHisLeuGluAsnGlyIleThrGluSerCysAlaThrSerTyrSerLysAspPheGlyGlyGlyThrThrLysIlePheAspLysProArgLysArgLysArgGlnArgHisAlaAlaAlaLysMetGlnCysLysLysValLysAsnAspAspSerSerLysGluIleProGlySerGluGlyGluLeuMetProHisArgThrAlaThrSerProLysGluThrValGluGluGlyValGluHisAspProGlyMetProAlaSerLysLysMetGlnGlyGluArgGlyGlyGlyAlaAlaLeuLysGluAsnValCysGlnAsnCysGluLysLeuGlyGluLeuLeuLeuCysGluAlaGlnCysCysGlyAlaPheHisLeuGluCysLeuGlyLeuThrGluMetProArgGlyLysPheIleCysAsnGluCysArgThrGlyIleHisThrCysPheValCysLysGlnSerGlyGluAspValLysArgCysLeuLeuProLeuCysGlyLysPheTyrHisGluGluCysValGlnLysTyrProProThrValMetGlnAsnLysGlyPheArgCysSerLeuHisIleCysIleThrCysHisAlaAlaAsnProAlaAsnValSerAlaSerLysGlyArgLeuMetArgCysValArgCysProValAlaTyrHisAlaAsnAspPheCysLeuAlaAlaGlySerLysIleLeuAlaSerAsnSerIleIleCysProAsnHisPheThrProArgArgGlyCysArgAsnHisGluHisValAsnValSerTrpCysPheValCysSerGluAspIleThrLysGluAlaGluHisGlyGlyAlaCysLeuTer" 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"proteinEffect": { "hgvs": "XP_024301930.1:n.-157G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS579836" }, { "coordinates": [ { "allele": "A", "end": 4036, "referenceAllele": "G", "start": 4035 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_022455.5:c.3839G>A" ], "proteinEffect": { "hgvs": "NP_071900.2:p.Trp1280Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728582", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000439151.7:c.3839G>A" }, "RefSeq": { "hgvs": "NM_022455.5:c.3839G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395929.2:p.Trp1280Ter" }, "RefSeq": { "hgvs": "NP_071900.2:p.Trp1280Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "G", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN014234", "geneNCBI_id": 64324, "geneSymbol": "NSD1", "hgvs": [ "NM_172349.3:c.3032G>A" 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